Gene-level evolutionary conservation and human constraint decline at comparable rates across the age of onset of Mendelian disease
Background Gene-level constraint and conservation scores are widely used to prioritise disease genes and to benchmark genomic language models. Purifying selection acts weakly on phenotypes manifesting after reproduction, so these scores are expected to carry less information about late-onset disease. An onset-dependent...
Anees Ahmed Mahaboob Ali, Everette Jacob Remington Nelson
· bioRxiv · 0 citations